Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

Por Holder-Espinasse, M, Marie, S, Bourrouillou, G, Ceballos-Picot, I, Nassogne, M, Faivre, L, Amiel, J, Munnich, A, Vincent, M, Cormier-Daire, V
Publicado em 2002

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

Por Holder-Espinasse, M, Escande, F, Mayrargue, E, Dieux-Coeslier, A, Fron, D, Doual-Bisser, A, Boute-Benejean, O, Robert, Y, Porchet, N, Manouvrier-Hanu, S
Publicado em 2004

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Por Seifert, W, Holder‐Espinasse, M, Spranger, S, Hoeltzenbein, M, Rossier, E, Dollfus, H, Lacombe, D, Verloes, A, Chrzanowska, K H, Maegawa, G H B, Chitayat, D, Kotzot, D, Huhle, D, Meinecke, P, Albrecht, B, Mathijssen, I, Leheup, B, Raile, K, Hennies, H C, Horn, D
Publicado em 2006

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Por Desmyter, L., Ghassibe, M., Revencu, N., Boute, O., Lees, M., François, G., Verellen-Dumoulin, C., Sznajer, Y., Moncla, A., Benateau, H., Claes, K., Devriendt, K., Mathieu, M., Van Maldergem, L., Addor, M.-C., Drouin-Garraud, V., Mortier, G., Bouma, M., Dieux-Coeslier, A., Genevieve, D., Goldenberg, A., Gozu, A., Makrythanasis, P., McEntagart, U., Sanchez, A., Vilain, C., Vermeer, S., Connell, F., Verheij, J., Manouvrier, S., Pierquin, G., Odent, S., Holder-Espinasse, M., Vincent-Delorme, C., Gillerot, Y., Vanwijck, R., Bayet, B., Vikkula, M.
Publicado em 2010

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

Por Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., Moustafa, J. S. El-Sayed, Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioshi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Deixheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.
Publicado em 2010